Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

Early detection of congenital disorders by newborn screening (NBS) programs is essential to prevent or limit disease manifestation in affected neonates. These programs balance between the detection of the highest number of true cases and the lowest number of false‐positives. In this case report, we...

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Detalles Bibliográficos
Autores principales: Hagemeijer, Marne C., Oussoren, Esmee, Ruijter, George J. G., Onkenhout, Willem, Huidekoper, Hidde H., Ebberink, Merel S., Waterham, Hans R., Ferdinandusse, Sacha, de Vries, Maaike C., Huigen, Marleen C. D. G., Kluijtmans, Leo A. J., Coene, Karlien L. M., Blom, Henk J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411102/
https://www.ncbi.nlm.nih.gov/pubmed/34485012
http://dx.doi.org/10.1002/jmd2.12223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8411102/
https://www.ncbi.nlm.nih.gov/pubmed/34485012
http://dx.doi.org/10.1002/jmd2.12223

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